Ethan Bahl & Alex Greiner to Present at Genetics Student Seminar 7/23/18

Ethan’s Abstract:

Coexpression of the Connectome

Autism spectrum disorder (ASD) is a heterogenous neurodevelopmental disorder identified in 1 of 59 children, and is characterized by social impairments and restrictive behaviors that impact daily functioning at home, work, and school. ASD is heritable with a predominantly genetic component, and genetic susceptibility to ASD is associated with rare and common variation. Genes implicated in ASD are regulated by neuronal activity and function in chromatin remodeling, protein synthesis, and synaptic function, thus serving critical roles in information transfer and processing in the brain. Furthermore, neuroimaging studies have found that functional connectivity, or synchronous patterns of activity between brain regions, is altered in ASD, and the degree of these alterations correspond to symptom presence and severity. Although past neuroimaging studies consistently find alteration to functional connectivity in ASD, patterning and directionality have been largely inconsistent, likely due to small sample sizes and the inherently heterogenous nature of the disorder. Brain function is the critical link between genetic variation and ASD, but a consensus has not been reached by neuroimaging efforts. Therefore, novel methods are needed to bridge this gap.

Here we detail an analytical framework for navigating the multidimensional space of psychiatry research, while providing glimpses of the historical foundation and results of our ongoing research efforts. Our research aims to identify and predict clinically relevant functional brain connections associated with symptom profiles in ASD using genomic data. We combine next-generation sequencing, detailed patient phenotyping, brain-wide expression atlases, functional magnetic resonance imaging, mouse models, and sinlge cell RNA sequencing to gain biological insight to autism spectrum disorder. To supplement our understanding of neuronal activity and function, we are investigating the role of activity-dependent CREB signaling in long term plasticity and long term memory formation. By employing a multifaceted collaborative approach to studying a complex psychiatric disorder, we are beginning to bridge gaps in our fundamental understanding of ASD and the genetics of brain function.

Alex’s Abstract:

TBA